Gene Gene information from NCBI Gene database.
Entrez ID 57148
Gene name Ral GTPase activating protein non-catalytic subunit beta
Gene symbol RALGAPB
Synonyms (NCBI Gene)
KIAA1219RalGAPbeta
Chromosome 20
Chromosome location 20q11.23
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs546763036 A>G Likely-pathogenic Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs758022116 G>T Likely-pathogenic Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
miRNA miRNA information provided by mirtarbase database.
731
miRTarBase ID miRNA Experiments Reference
MIRT032129 hsa-let-7d-5p Sequencing 20371350
MIRT052119 hsa-let-7b-5p CLASH 23622248
MIRT043758 hsa-miR-328-3p CLASH 23622248
MIRT043719 hsa-miR-342-3p CLASH 23622248
MIRT040158 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005096 Function GTPase activator activity ISS
GO:0005515 Function Protein binding IPI 32296183
GO:0032484 Process Ral protein signal transduction IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618833 29221 ENSG00000170471
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86X10
Protein name Ral GTPase-activating protein subunit beta (p170)
Protein function Non-catalytic subunit of the heterodimeric RalGAP1 and RalGAP2 complexes which act as GTPase activators for the Ras-like small GTPases RALA and RALB.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain, mostly in amygdala.
Sequence
MYSEWRSLHLVIQNDQGHTSVLHSYPESVGREVANAVVRPLGQVLGTPSVAGSENLLKTD
KEVKWTMEVICYGLTLPLDGETVKYCVDVYTDWIMALVLPKDSIPLPVIKEPNQYVQTIL
KHLQNLFVPRQEQGSSQIRLCLQVLRAIQKLARESSLMARETWEVLLLFLLQINDILLAP
PTVQGGIAENLAEKLIGVLFEVWLLACTRCFPTPPYWKTAKEMVANWRHHPAVVEQWSKV
ICALTSRLLRFTYGPSFPAFKVPDEDASLIPPEMDNECVAQTWFRFLHMLSNPVDLSNPA
IISSTPKFQEQFLNVSGMPQELNQYPCLKHLPQIFFRAMRGISCLVDAFLGISRPRSDSA
PPTPVNRLSMPQSAAVSTTPPHNRRHRAVTVNKATMKTSTVSTAHASKVQHQTSSTSPLS
SPNQTSSEPRPLPAPRRPKVNSILNLFGSWLFDAAFVHCKLHNGINRDSSMTAITTQASM
EFRRKGSQMSTDTMVSNPMFDASEFPDNYEAGRAEACGTLCRIFCSKKTGEEILPAYLSR
FYMLLIQGLQINDYVCHPVLASVILNSPPLFCCDLKGIDVVVPYFISALETILPDRELSK
FKSYVNPTELRRSSINILLSLLPLPHHFGTVKSEVVLEGKFSNDDSSSYDKPITFLSLKL
RLVNILIGALQTETDPNNTQMILGAMLNIVQDSALLEAIGCQMEMGGGENNLKSHSRTNS
GISSASGGSTEPTTPDSERPAQALLRDYALNTDSAAGLLIRSIHLVTQRLNSQWRQDMSI
SLAALELLSGLAKVKVMVDSGDRKRAISSVCTYIVYQCSRPAPLHSRDLHSMIVAAFQCL
CVWLTEHPDMLDEKDCLKEVLEIVELGISGSKSKNNEQEVKYKGDKEPNPASMRVKDAAE
ATLTCIMQLLGAFPSPSGPASPCSLVNETTLIKYSRLPTINKHSFRYFVLDNSVILAMLE
QPLGNEQNDFFPSVTVLVRGMSGRLAWAQQLCLLPRGAKANQKLFVPEPRPVPKNDVGFK
YSVKHRPFPEEVDKIPFVKADLSIPDLHEIVTEELEERHEKLRSGMAQQIAYEIHLEQQS
EEELQKRSFPDPVTDCKPPPPAQEFQTARLFLSHFGFLSLEALKEPANSRLPPHLIALDS
TIPGFFDDIGYLDLLPCRPFDTVFIFYMKPGQKTNQEILKNVESSRTVQPHFLEFLLSLG
WSVDVGRHPGWTGHVSTSWSINCCDDGEGSQQEVISSEDIGASIFNGQKKVLYYADALTE
IAFVVPSPVESLTDSLESNISDQDSDSNMDLMPGILKQPSLTLELFPNHTDNLNSSQRLS
PSSRMRKLPQGRPVPPLGPETRVSVVWVERYDDIENFPLSELMTEISTGVETTANSSTSL
RSTTLEKEVPVIFIHPLNTGLFRIKIQGATGKFNMVIPLVDGMIVSRRALGFLVRQTVIN
ICRRKRLESDSYSPPHVRRKQKITDIVNKYRNKQLEPEFYTSLFQEVGLKNCSS
Sequence length 1494
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Ras signaling pathway  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
21
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Pathogenic rs2516688932 RCV002287627
Septo-optic dysplasia sequence Likely pathogenic rs758022116 RCV000509009
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs546763036 -
Developmental disorder Likely benign rs2516568835 RCV003127426
High myopia Uncertain significance rs1225426795 RCV000785685
Marfanoid habitus and intellectual disability Uncertain significance rs756555782 RCV000850412
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Attention Deficit and Disruptive Behavior Disorders Associate 30564305
Autistic Disorder Associate 30564305
Spasms Infantile Associate 35830182